Canonical Allele Identifier: CA379134848

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1281389073
• gnomAD v2: 11-2608905-C-T
• gnomAD v4: 11-2587675-C-T
• MyVariant Identifiers: chr11:g.2608905C>T (hg19) ; chr11:g.2587675C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587675C>T , CM000673.2:g.2587675C>T	GRCh38
NC_000011.9:g.2608905C>T , CM000673.1:g.2608905C>T	GRCh37
NC_000011.8:g.2565481C>T	NCBI36
NG_008935.1:g.147685C>T , LRG_287:g.147685C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.877C>T	ENSP00000434560.2:p.Pro293Ser
ENST00000646564.2:c.694C>T	ENSP00000495806.2:p.Pro232Ser
ENST00000155840.12:c.1234C>T MANE Select	ENSP00000155840.2:p.Pro412Ser
ENST00000335475.6:c.853C>T	ENSP00000334497.5:p.Pro285Ser
ENST00000646564.1:c.340C>T	ENSP00000495806.1:p.Pro114Ser
ENST00000155840.9:c.1234C>T	ENSP00000155840.2:p.Pro412Ser
ENST00000335475.5:c.853C>T	ENSP00000334497.5:p.Pro285Ser
NM_000218.2:c.1234C>T , LRG_287t1:c.1234C>T	NP_000209.2:p.Pro412Ser
NM_181798.1:c.853C>T , LRG_287t2:c.853C>T	NP_861463.1:p.Pro285Ser
NM_000218.3:c.1234C>T MANE Select	NP_000209.2:p.Pro412Ser